| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56870675C>G | CA8069208 | SLC12A3 | c.791C>G (p.Ala264Gly) c.788C>G (p.Ala263Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56870675C>A | CA395982211 | SLC12A3 | c.791C>A (p.Ala264Asp) c.788C>A (p.Ala263Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56870675C= | CA2224349553 | SLC12A3 | c.791C= (p.Ala264=) c.788C= (p.Ala263=) | ClinVar dbSNP dbSNP |